Publications by authors named "Joyce Fox"

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Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.
Justyna A Karolak, Qian Liu, Nina G Xie, Lucia R Wu, Gustavo Rocha, Joyce Fox

J Mol Diagn· April 2020

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Three Decades of Professional Nursing Leadership: The Impact of the Community Health Nurses of Canada.
Morag Granger, Ruth Schofield, Joyce Fox, Katie E Dilworth, Nora Whyte

Nurs Leadersh (Tor Ont)· December 2018

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Prevention of Leber congenital amaurosis through preimplantation genetic diagnosis.
Sylvia R Kodsi, Sara L Bristow, Joyce E Fox, Avner Hershlag

J AAPOS· June 2018

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Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
Przemyslaw Szafranski, Tomasz Gambin, Avinash V Dharmadhikari, Kadir Caner Akdemir, Shalini N Jhangiani, Joyce Fox

Hum Genet· May 2016

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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Lot Snijders Blok, Erik Madsen, Jane Juusola, Christian Gilissen, Diana Baralle, Joyce Fox

Am J Hum Genet· August 2015

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First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient.
Joyce E Fox, Linda Volpe, Josephine Bullaro, Emil D Kakkis, William S Sly

Mol Genet Metab· February 2015

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Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.
Jill A Rosenfeld, Joyce E Fox, Maria Descartes, Fallon Brewer, Tracy Stroud

Am J Med Genet A· February 2015

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Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency.
Graeme R Frank, Joyce Fox, Ninfa Candela, Zorica Jovanovic, Elena Bochukova

Mol Genet Metab· March 2014

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Quantitative and qualitative QuantiFERON(®)-TB gold in-tube results among groups with varying risks of exposure to tuberculosis.
Terri Simpson, Joyce Fox, Karen Crouse, Kimberly Field

Heart Lung· May 2013

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Screening for Mycobacterium tuberculosis using an interferon-gamma release assay.
Terri Simpson, Joyce Fox, Karen Crouse, Kimberly Field

J Public Health Manag Pract· September 2012

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Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region.
Eugen-Matthias Strehle, Linbo Yu, Jill A Rosenfeld, Sandra Donkervoort, Yulin Zhou, Joyce E Fox

Am J Med Genet A· September 2012

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Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.
Paul J Coucke, Andy Willaert, Marja W Wessels, Bert Callewaert, Nicoletta Zoppi, Joyce E Fox

Nat Genet· April 2006

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Nutritional therapy improves growth and protein status of children with a urea cycle enzyme defect.
Phyllis B Acosta, Steven Yannicelli, Alan S Ryan, Georgianne Arnold, Barbara J Marriage, Joyce Fox

Mol Genet Metab· December 2005

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Bilateral central giant cell granulomas of the mandible in an 8-year-old girl with Noonan syndrome (Noonan-like/multiple giant cell lesion syndrome).
Paul C Edwards, Joyce Fox, John E Fantasia, Jeff Goldberg, Robert D Kelsch

Oral Surg Oral Med Oral Pathol Oral Radiol Endod· March 2005

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Prenatal diagnosis of trisomy 3 mosaicism.
Ann-Leslie Zaslav, Guy Pierno, Jessica Davis, Arthur Fougner, Jessy Jacob, Joyce Fox

Prenat Diagn· September 2004

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Ocular manifestations of Noonan syndrome in the pediatric patient.
Dorothy J Reynolds, Steven E Rubin, Joyce Fox, Sylvia R Kodsi

J AAPOS· June 2004

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Prenatal diagnosis of a rare inherited heterochromatic variant chromosome 4.
Ann-Leslie Zaslav, Guy Pierno, Arthur Fougner, Jessy Jacob, Geraldine Shikora, Joyce E Fox

Am J Med Genet A· May 2004

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Bilateral cataracts, retinal detachment and vitreous hemorrhage in a newborn with congenital diaphragmatic hernia.
Pankaj Kumar, Philip J Ferrone, Joyce Fox, Robert Koppel

J Perinatol· October 2003

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